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MSeqDR Master Exome Data Set M1: 52 entries from same gene

No.

Chr

Position

Reference

Variant

EnsemblTranscriptID

EnsemblGeneID

Gene_Start

Gene_End

EnsemblProteinID

Gene

strand

Uniprot

cChange

pChange

Nature

dbSNP

Freq

EVS

phastCons

SIFT

Polyphen

HGMD

type

samples

1

M

648

A

G

ENST00000389680

ENSG00000211459

648

1601

-

MT-RNR1

1

-

c.1A>G

-

-

NA

-

-

lod=140:497

-

-

-

hom

1

2

M

663

A

G

ENST00000389680

ENSG00000211459

648

1601

-

MT-RNR1

1

-

c.16A>G

-

-

rs3937039

-

-

lod=140:497

-

-

-

hom

21

3

M

686

A

G

ENST00000389680

ENSG00000211459

648

1601

-

MT-RNR1

1

-

c.39A>G

-

-

rs78880991

-

-

-

-

-

-

hom

2

4

M

709

G

A

ENST00000389680

ENSG00000211459

648

1601

-

MT-RNR1

1

-

c.62G>A

-

-

rs2853517

-

-

lod=107:469

-

-

-

het

1

5

M

709

G

A

ENST00000389680

ENSG00000211459

648

1601

-

MT-RNR1

1

-

c.62G>A

-

-

rs2853517

-

-

lod=107:469

-

-

-

hom

128

6

M

710

T

C

ENST00000389680

ENSG00000211459

648

1601

-

MT-RNR1

1

-

c.63T>C

-

-

rs28358568

-

-

lod=107:469

-

-

-

hom

2

7

M

710

T

C

ENST00000389680

ENSG00000211459

648

1601

-

MT-RNR1

1

-

c.63T>C

-

-

rs28358568

-

-

lod=107:469

-

-

-

het

1

8

M

721

T

C

ENST00000389680

ENSG00000211459

648

1601

-

MT-RNR1

1

-

c.74T>C

-

-

NA

-

-

-

-

-

-

hom

2

9

M

722

C

T

ENST00000389680

ENSG00000211459

648

1601

-

MT-RNR1

1

-

c.75C>T

-

-

NA

-

-

lod=38:358

-

-

-

hom

1

10

M

723

A

C

ENST00000389680

ENSG00000211459

648

1601

-

MT-RNR1

1

-

c.76A>C

-

-

NA

-

-

lod=38:358

-

-

-

hom

3

11

M

745

A

G

ENST00000389680

ENSG00000211459

648

1601

-

MT-RNR1

1

-

c.98A>G

-

-

NA

-

-

-

-

-

-

hom

1

12

M

750

A

G

ENST00000389680

ENSG00000211459

648

1601

-

MT-RNR1

1

-

c.103A>G

-

-

rs112547485

-

-

lod=32:340

-

-

-

hom

927

13

M

769

G

A

ENST00000389680

ENSG00000211459

648

1601

-

MT-RNR1

1

-

c.122G>A

-

-

rs111347407

-

-

lod=68:420

-

-

-

hom

26

14

M

813

A

G

ENST00000389680

ENSG00000211459

648

1601

-

MT-RNR1

1

-

c.166A>G

-

-

rs77267909

-

-

lod=138:496

-

-

-

hom

2

15

M

825

T

A

ENST00000389680

ENSG00000211459

648

1601

-

MT-RNR1

1

-

c.178T>A

-

-

rs111410691

-

-

lod=86:445

-

-

-

het

1

16

M

825

T

A

ENST00000389680

ENSG00000211459

648

1601

-

MT-RNR1

1

-

c.178T>A

-

-

rs111410691

-

-

lod=86:445

-

-

-

hom

10

17

M

827

A

G

ENST00000389680

ENSG00000211459

648

1601

-

MT-RNR1

1

-

c.180A>G

-

-

rs113842757

-

-

lod=86:445

-

-

-

hom

22

18

M

896

A

G

ENST00000389680

ENSG00000211459

648

1601

-

MT-RNR1

1

-

c.249A>G

-

-

NA

-

-

lod=299:578

-

-

-

hom

1

19

M

921

T

C

ENST00000389680

ENSG00000211459

648

1601

-

MT-RNR1

1

-

c.274T>C

-

-

rs28358570

-

-

lod=299:578

-

-

-

hom

3

20

M

928

A

G

ENST00000389680

ENSG00000211459

648

1601

-

MT-RNR1

1

-

c.281A>G

-

-

NA

-

-

lod=15:259

-

-

-

hom

2

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